Fig. 4
Clinical traits over-represented in 22q11.2 deletion and duplication carriers. CNV carriers were identified in the EHR by keyword search and chart review (left, 22q11.2 deletions [n = 388], right, 22q11.2 duplications [n = 43], see “Methods”). Controls included all individuals without the CNV within the medical home population at Vanderbilt (n ~ 707,000). The x-axis represents the PheWAS codes that are mapped from ICD-9/ICD-10 codes, grouped and color-coded by organ system. The y-axis represents the level of significance (− log10p). The horizontal red line indicates a Bonferroni correction for the number of phenotypes tested in this PheWAS (p = 0.05/1,795 = 2.8 × 10−5); the horizontal blue line indicates p = 0.05. Each triangle represents a phenotype. Triangles represent direction of effect; upward pointing arrows indicate phenotypes more common in cases. Covariates included age, sex, and self-reported race extracted from the EHR. Top phenotypes (P < 1.0 × 10−50) are labeled in the 22q11.2 deletion plot (left). Phenotypes reaching Bonferroni-corrected significance level are labeled in the 22q11.2 duplication plot (right)